HAE
MCID: HRD002
MIFTS: 61

Hereditary Angioedema (HAE)

Categories: Bone diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hereditary Angioedema

MalaCards integrated aliases for Hereditary Angioedema:

Name: Hereditary Angioedema 12 74 52 25 58 36 6 15
Hereditary Angioneurotic Edema 12 52 25 58
Hane 12 52 25
Hae 52 25 58
Angioedemas, Hereditary 43 71
Angioedema, Hereditary 52 54
Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor 71
Hereditary Non Histamine-Induced Angioedema 58
Hereditary Bradykinine-Induced Angioedema 58
Hereditary Angioedema Types I and Ii 71
Deficiency of C1 Esterase Inhibitor 52
C1 Esterase Inhibitor Deficiency 25
Hereditary Angioedema Type 1 52
Familial Angioneurotic Edema 58
C1 Inhibitor Deficiency 25

Characteristics:

Orphanet epidemiological data:

58
hereditary angioedema
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe),1-9/100000 (Denmark),1-9/100000 (Norway),1-9/100000 (Spain); Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare allergic disease


External Ids:

Disease Ontology 12 DOID:14735
KEGG 36 H01006
MeSH 43 D054179
NCIt 49 C84758
SNOMED-CT 67 82966003
ICD10 via Orphanet 33 D84.1
UMLS via Orphanet 72 C0019243
Orphanet 58 ORPHA91378
UMLS 71 C0019243 C0398775 C2717905

Summaries for Hereditary Angioedema

NIH Rare Diseases : 52 Hereditary angioedema (HAE) is a disease characterized by recurrent episodes (also called attacks) of severe swelling of the skin and mucous membranes. The age at which attacks begin varies, but most people have their first one in childhood or adolescence. The frequency of attacks usually increases after puberty. Attacks most often affect 3 parts of the body: Skin - the most common sites are the face (such as the lips and eyes), hands, arms, legs, genitals, and buttocks. Skin swelling can cause pain, dysfunction, and disfigurement, although it is generally not dangerous and is temporary. Gastrointestinal tract - the stomach, intestines, bladder, and/or urethra may be involved. This may cause symptoms such as nausea, vomiting, diarrhea, and abdominal pain. Upper airway (such as the larynx and tongue) - this can cause upper airway obstruction and may be life-threatening. The majority of attacks affecting the airway resolve before complete airway obstruction. Attacks may involve one area of the body at a time, or they may involve a combination of areas. They always go away on their own but last from 2 to 4 days. While people with HAE have reported various triggers of attacks, emotional stress, physical stress, and dental procedures are the most commonly reported triggers. There are several types of HAE. Types I and II are caused by mutations in the C1NH gene (also called the SERPING1 gene ), which provides instructions for making the C1 inhibitor protein . Type I is due to deficiency of C1 inhibitor, and type II is due to dysfunction of C1 inhibitor. These types are also characterized by abnormal complement protein levels . Inheritance of types I and II is autosomal dominant , but not all people with a SERPING1 gene mutation will develop symptoms of HAE. A third type is called HAE with normal C1 inhibitor. This type is characterized by normal C1 inhibitor and normal complement protein levels, and usually begins in adulthood. While some cases of type III are due to mutations in the F12 gene , in other cases the cause is not yet known. The inheritance of this form is also thought to be autosomal dominant. Management of HAE involves treatment of sudden (acute) attacks and preventing attacks (prophylaxis ). Treatment for acute attacks in types I and II includes replacement with C1 inhibitor concentrates, a kallikrein inhibitor , or fresh-frozen plasma (by infusion). Sudden attacks involving the upper airway may involve intubation if stridor or signs of respiratory distress are present. HAE with normal C1 inhibitor levels is treated similarly, however C1 inhibitor infusion is not effective. Prophylaxis may involve regular injections of C1 inhibitor concentrates, long-term androgen (male hormone ) therapy, or antifibrinolytics . The long-term outlook varies depending on the frequency and location of attacks, and the severity of attacks in each person. Attacks generally continue throughout life, but the frequency of attacks can be significantly reduced with therapy.

MalaCards based summary : Hereditary Angioedema, also known as hereditary angioneurotic edema, is related to angioedema, hereditary, type i and c1 inhibitor deficiency. An important gene associated with Hereditary Angioedema is F12 (Coagulation Factor XII), and among its related pathways/superpathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. The drugs Omalizumab and Lactitol have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and eye, and related phenotypes are angioedema and ascites

Genetics Home Reference : 25 Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack. Symptoms of hereditary angioedema typically begin in childhood and worsen during puberty. On average, untreated individuals have an attack every 1 to 2 weeks, and most episodes last for about 3 to 4 days. The frequency and duration of attacks vary greatly among people with hereditary angioedema, even among people in the same family. There are three types of hereditary angioedema, called types I, II, and III, which can be distinguished by their underlying causes and levels of a protein called C1 inhibitor in the blood. The different types have similar signs and symptoms. Type III was originally thought to occur only in women, but families with affected males have been identified.

KEGG : 36 Hereditary angioedema (HAE) is a rare genetic disorder, manifested by recurrent episodes of angioedema localized to the skin or mucosa of the gastrointestinal tract or larynx. The laryngeal angioedema is potentially lethal. The classic forms, HAE types I and II, result from deficiency of the plasma protease inhibitor, C1 inhibitor (C1INH). Type I HAE is caused by decreased expression of C1INH in the plasma whereas type 2 HAE, consisting approximately 15% of patients with HAE, is due to expression of a dysfunctional C1INH protein. HAE type III has been observed exclusively in women and appears to be correlated with high estrogen levels.

Wikipedia : 74 Hereditary angioedema (HAE) is a disorder that results in recurrent attacks of severe swelling. The... more...

Related Diseases for Hereditary Angioedema

Diseases in the Angioedema family:

Angioedema, Hereditary, Type I Angioedema, Hereditary, Type Iii
Hereditary Angioedema Acquired Angioedema
Acquired Angioedema Type 1 Acquired Angioedema Type 2

Diseases related to Hereditary Angioedema via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 330)
# Related Disease Score Top Affiliating Genes
1 angioedema, hereditary, type i 34.4 SERPING1 PLG F12
2 c1 inhibitor deficiency 32.6 SERPING1 KNG1 KLKB1 F12 C1S BDKRB2
3 hydrops, lactic acidosis, and sideroblastic anemia 31.9 SERPING1 KNG1 C1S
4 acquired angioedema 31.2 SERPING1 CRP C1S
5 capillary leak syndrome 30.9 SERPING1 C4A C1S
6 urticaria 30.8 SERPING1 SELE F12 CRP C1S
7 allergic urticaria 30.6 SERPING1 KNG1
8 melkersson-rosenthal syndrome 30.5 SERPING1 ACE
9 disseminated intravascular coagulation 30.5 SELE PLG CRP
10 facial paralysis 30.4 PLG CRP ACE
11 mannose-binding lectin deficiency 30.4 MBL2 MASP2
12 epiglottitis 30.2 SERPING1 CRP
13 intussusception 30.2 CRP CDH5 ANGPT1
14 hypersensitivity vasculitis 30.2 CRP C4A ACE
15 glomerulonephritis 30.2 MBL2 MASP1 C4B C4A C1S ACE
16 complement deficiency 30.1 SERPING1 MBL2 C4B C4A C1S
17 iga glomerulonephritis 30.1 MBL2 MASP1 ACE
18 adult respiratory distress syndrome 30.0 SELE C4A ACE
19 migraine with or without aura 1 29.8 PLG KNG1 CRP ACE
20 vasculitis 29.6 SELE MBL2 CRP C1S
21 coronary artery anomaly 29.5 SELE PLG KNG1 CRP ACE
22 vascular disease 29.3 SELE PLG KNG1 CRP ANGPT1 ACE
23 angioedema 29.1 XPNPEP2 SERPING1 PLG MBL2 MASP2 MASP1
24 systemic lupus erythematosus 29.1 SELE MBL2 CRP C4B C4A C1S
25 hypertension, essential 28.0 SELE PLG KNG1 KLKB1 KLK1 F12
26 angioedema, hereditary, type iii 12.5
27 hereditary angioedema with normal c1inh 12.5
28 hereditary angioedema with c1inh deficiency 12.4
29 plg-related hereditary angioedema with normal c1inh 12.3
30 angpt1-related hereditary angioedema with normal c1inh 12.3
31 angioedema induced by ace inhibitors 11.5
32 acquired angioedema with c1inh deficiency 11.5
33 frasier syndrome 11.3
34 complement component 4, partial deficiency of 11.0
35 pseudomembranous conjunctivitis 10.6 SERPING1 PLG
36 juvenile dermatitis herpetiformis 10.5 C4B C4A
37 acute anterolateral myocardial infarction 10.5 PLG ACE
38 tick-borne relapsing fever 10.4 C4B C4A
39 autoimmune lymphoproliferative syndrome, type v 10.4
40 fissured tongue 10.4 SERPING1 ACE
41 immunodeficiency due to a classical component pathway complement deficiency 10.4 C4B C4A C1S
42 mediastinum teratoma 10.4 CRP ACE
43 marantic endocarditis 10.4 PLG CRP
44 autoimmune disease 10.4
45 acute dacryoadenitis 10.4 CRP ACE
46 intracranial sinus thrombosis 10.4 PLG CRP
47 pyruvate kinase deficiency of red cells 10.4 KNG1 KLKB1 BDKRB2
48 iga nephropathy 1 10.4 MASP1 ACE
49 dermatographia 10.4 SERPING1 CRP
50 chronic orbital inflammation 10.3 CRP ACE

Graphical network of the top 20 diseases related to Hereditary Angioedema:



Diseases related to Hereditary Angioedema

Symptoms & Phenotypes for Hereditary Angioedema

Human phenotypes related to Hereditary Angioedema:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 angioedema 58 31 hallmark (90%) Very frequent (99-80%) HP:0100665
2 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
3 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
4 intestinal obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0005214
5 facial edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000282
6 laryngeal edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0012027
7 intestinal edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0005225
8 edema 58 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Hereditary Angioedema according to GeneCards Suite gene sharing:

26 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.8 C4A C4B MBL2 SERPING1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.8 C4A C4B
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.8 MBL2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.8 C4A C4B
5 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.8 C4A C4B
6 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.8 MBL2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.8 C4A C4B
8 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.8 MBL2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.8 MBL2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.8 SERPING1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.8 MBL2 SERPING1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.8 C4A C4B SERPING1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.8 SERPING1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.8 SERPING1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.8 SERPING1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.8 MBL2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.8 C4A C4B
18 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.8 C4A C4B
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.7 C4A C4B
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.7 KLK1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.7 KLK1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.7 C4A C4B SERPING1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.7 C4A C4B KLK1 SERPING1

MGI Mouse Phenotypes related to Hereditary Angioedema:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.03 ACE ANGPT1 BDKRB2 C4B CDH5 CRP
2 homeostasis/metabolism MP:0005376 9.97 ACE ANGPT1 BDKRB2 C4B CDH5 CRP
3 immune system MP:0005387 9.7 ACE ANGPT1 BDKRB2 C4B CDH5 CRP
4 renal/urinary system MP:0005367 9.17 ACE ANGPT1 BDKRB2 C4B MBL2 PLAUR

Drugs & Therapeutics for Hereditary Angioedema

Drugs for Hereditary Angioedema (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 75)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omalizumab Approved, Investigational Phase 4 242138-07-4
2
Lactitol Investigational Phase 4 585-86-4, 585-88-6 493591
3 Vasodilator Agents Phase 4
4 Immunoglobulins Phase 4
5 Antibodies Phase 4
6 Rho(D) Immune Globulin Phase 4
7 Immunoglobulins, Intravenous Phase 4
8 gamma-Globulins Phase 4
9 Respiratory System Agents Phase 4
10 Anti-Asthmatic Agents Phase 4
11 Anti-Allergic Agents Phase 4
12
Histidine Investigational, Nutraceutical Phase 4 71-00-1 6274
13
Icatibant Approved, Investigational Phase 3 130308-48-4, 138614-30-9 71364
14
tannic acid Approved Phase 3 1401-55-4
15
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
16
Tranexamic Acid Approved Phase 3 1197-18-8 5526
17
Bradykinin Investigational Phase 3 58-82-2 439201
18 Kininogens Phase 3
19 Bradykinin Receptor Antagonists Phase 3
20 Plasma Kallikrein Phase 3
21 Kallikreins Phase 3
22 Passionflower Phase 3
23 Coagulants Phase 3
24 Fibrinolytic Agents Phase 3
25 Hemostatics Phase 3
26 Antifibrinolytic Agents Phase 3
27 Pharmaceutical Solutions Phase 3
28 Antibodies, Monoclonal Phase 3
29
Danazol Approved Phase 2 17230-88-5 28417
30
Cortisone Experimental Phase 2 53-06-5 222786
31 Fertility Agents Phase 2
32 Hormone Antagonists Phase 2
33 Hormones Phase 2
34 Estrogens Phase 2
35 Selective Estrogen Receptor Modulators Phase 2
36 Estrogen Receptor Antagonists Phase 2
37 Estrogen Antagonists Phase 2
38 Estrogen Receptor Modulators Phase 2
39 Angiotensin-Converting Enzyme Inhibitors Phase 2
40 Plasminogen Phase 2
41
Oxandrolone Approved, Investigational Phase 1 53-39-4 5878
42
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
43
Digoxin Approved Phase 1 20830-75-5 30322 2724385
44
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
45
Tolbutamide Approved, Investigational Phase 1 64-77-7 5505
46
Dextromethorphan Approved Phase 1 125-71-3 5360696 5362449
47
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
48
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
49 Anabolic Agents Phase 1
50 Androgens Phase 1

Interventional clinical trials:

(show top 50) (show all 94)
# Name Status NCT ID Phase Drugs
1 Prospective Open-label Uncontrolled Multi-center Post-marketing Study to Assess Inhibitory Antibody Formation in Subjects With Congenital C1-INH Deficiency and Acute Hereditary Angioedema (HAE) Attacks Treated With Berinert® , a C1-esterase Inhibitor Completed NCT01467947 Phase 4
2 Hereditary Angioedema : Interest From the Use of a Call Center During the Attacks. Completed NCT01679912 Phase 4
3 Open Label, Multicenter Study to Evaluate Efficacy, Safety and Tolerability of a Self-Administered Subcutaneous Formulation of Icatibant for the Treatment of Acute Attacks of Hereditary Angioedema (IHA) Completed NCT01457430 Phase 4 Icatibant
4 A Phase 4 Study to Evaluate the Safety and Effect of Escalating Doses of CINRYZE® (C1 Inhibitor [Human]) as Prophylactic Therapy in Subjects With Inadequately Controlled Hereditary Angioedema Attacks Completed NCT00914966 Phase 4
5 A Single-site, Open-Label, Pilot Study to Evaluate the Benefit of RUCONEST® in Subjects Who Experience ADRs Related to IVIG Infusions Recruiting NCT03576469 Phase 4
6 A Phase IV, Randomized, Double-Blind, Placebo-Controlled Exploratory Study of Xolair (Omalizumab) for Treatment of Idiopathic Angioedema in Patients Who Remain Symptomatic Despite Current Therapy Recruiting NCT02966314 Phase 4 Omalizumab;Placebos
7 Randomized, Double-blind, Placebo-controlled, Dose-finding Study to Determine the Efficacy of 1000u, and 1500u of C1-INH Compared to Placebo at the Time of Prodromal Symptoms in Preventing an Acute HAE Exacerbation. Withdrawn NCT01151735 Phase 4 C-1-esterase;C-1-esterase;placebo
8 A Double-blind, Randomized, Placebo-controlled, Cross-over Study to Evaluate the Clinical Efficacy and Safety of Subcutaneous Administration of Human Plasma-derived C1-esterase Inhibitor in the Prophylactic Treatment of Hereditary Angioedema Completed NCT01912456 Phase 3
9 An Open-label, Randomized Study to Evaluate the Long-term Clinical Safety and Efficacy of Subcutaneous Administration of Human Plasma-derived C1-esterase Inhibitor in the Prophylactic Treatment of Hereditary Angioedema Completed NCT02316353 Phase 3
10 Human Pasteurized C1 Esterase Inhibitor Concentrate (CE1145) in Subjects With Congenital C1-INH Deficiency and Acute Abdominal or Facial HAE Attacks Completed NCT00168103 Phase 2, Phase 3
11 Randomized, Double Blind, Placebo-Controlled, Multicenter Study of a Subcutaneous Formulation of Icatibant for the Treatment of Hereditary Angioedema Completed NCT00097695 Phase 3 Icatibant;Placebo
12 An Open-Label Study of Icatibant in Japanese Subjects With Acute Attacks of Hereditary Angioedema. Completed NCT03888755 Phase 3 Icatibant
13 LEVP2006-4 CHANGE 3 Trial (C1-Inhibitor in Hereditary Angioedema Nanofiltration Generation Evaluating Efficacy): Open-Label Use of C1INH-nf (Human) for the Prophylactic Treatment to Prevent HAE Attacks and as Treatment in Acute HAE Attacks Completed NCT00462709 Phase 3
14 A Phase II/III Study of the Efficacy and Safety of Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262288 Phase 2, Phase 3 i.v. recombinant human C1 inhibitor
15 A Randomized, Placebo-controlled, Double-blind Phase III Study of the Efficacy and Safety of Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262301 Phase 3 recombinant human C1 inhibitor;Placebo
16 A Randomized, Placebo-controlled, Double Blind Phase II/III Study of the Safety and Efficacy of Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00225147 Phase 2, Phase 3 Recombinant Human C1 Inhibitor;placebo
17 OPuS-2: A Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate the Efficacy and Safety of Two Dose Levels of BCX4161 for 12 Weeks as an Oral Prophylaxis Treatment for Attacks of Hereditary Angioedema Completed NCT02303626 Phase 2, Phase 3 BCX4161;Placebo
18 A Phase 3, Open-label, Single-period Study to Evaluate the Safety and Treatment Effect of Intravenous Administration of C1 Inhibitor (Human) for the Prevention of Angioedema Attacks and Treatment of Breakthrough Attacks in Japanese Subjects With Hereditary Angioedema (HAE) Completed NCT02865720 Phase 3 CINRYZE 500 U;CINRYZE 1000 U
19 A Double-blind, Placebo-controlled Study (72 Patients, Randomized 1:1) Followed by a Repeat-dosing Phase to Assess the Efficacy and Safety of DX-88 (Ecallantide; Recombinant Plasma Kallikrein Inhibitor) for the Treatment of Acute Attacks of Hereditary Angioedema Completed NCT00262080 Phase 3 ecallantide;Phosphate Buffer Saline (PBS),
20 LEVP2006-1 CHANGE 2 Trial (C1-Inhibitor in Hereditary Angioedema Nanofiltration Generation Evaluating Efficacy): Open-Label Safety/Efficacy Repeat Exposure Study of C1INH-nf (Human) in the Treatment of Acute HAE Attacks Completed NCT00438815 Phase 3
21 A Phase 3, Multicenter, Randomized, Single-Blind, Dose-Ranging, Crossover Study to Evaluate the Safety and Efficacy of Intravenous Administration of CINRYZE® (C1 Esterase Inhibitor [Human]) for the Prevention of Angioedema Attacks in Children 6 to 11 Years of Age With Hereditary Angioedema Completed NCT02052141 Phase 3
22 A Phase 3, Randomized, Double-blind, Placebo-controlled, Two-period, Three-sequence, Partial Crossover Study to Evaluate the Efficacy and Safety of Subcutaneous Administration of 2000 IU of C1 Esterase Inhibitor [Human] Liquid for Injection for the Prevention of Angioedema Attacks in Adolescents and Adults With Hereditary Angioedema Completed NCT02584959 Phase 3 C1 esterase inhibitor [human] liquid;Placebo
23 Open-label Extension Study of CE1145 (Human Pasteurized C1 Esterase Inhibitor Concentrate) in Subjects With Congenital C1-INH Deficiency and Acute HAE Attacks Completed NCT00292981 Phase 3 C1 Esterase Inhibitor
24 EDEMA4: A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Assess the Efficacy and Safety of DX-88 (Ecallantide) for the Treatment of Acute Attacks of Hereditary Angioedema Completed NCT00457015 Phase 3 ecallantide;Phosphate Buffer Saline (PBS), pH 7.0
25 Open-label Patient Continuation of DX-88 (Ecallantide) for Acute Hereditary Angioedema Attacks Completed NCT00456508 Phase 3 ecallantide
26 Pharmacokinetics Berinert P Study of Subcutaneous Versus Intravenous Administration in Subjects With Moderate Hereditary Angioedema - The Passion Study Completed NCT00748202 Phase 3 C1-Esterase Inhibitor
27 HELP Study: A Multicenter, Randomized, Double-Blind, Placebo-Controlled Efficacy and Safety Study to Evaluate DX-2930 For Long-Term Prophylaxis Against Acute Attacks of Hereditary Angioedema (HAE) Completed NCT02586805 Phase 3 DX-2930 - 300mg/2wk;DX-2930 - 300mg/4wk;DX-2930 - 150mg/4wk;Placebo
28 Open Label, Multicenter Study to Evaluate Safety, Local Tolerability, Convenience, and Efficacy of a Self-Administered Subcutaneous Formulation of Icatibant for the Treatment of Acute Attacks of Hereditary Angioedema Completed NCT00997204 Phase 3 Icatibant
29 HELP Study ExtensionTM: An Open-Label Study to Evaluate the Long-Term Safety and Efficacy of DX-2930 for Prevention Against Acute Attacks of Hereditary Angioedema (HAE) Completed NCT02741596 Phase 3 DX-2930;DX-2930
30 Randomised Double Blind, Controlled, Parallel Group, Multicentre Study of a Subcutaneous Formulation of Icatibant Versus Oral Tranexamic Acid for the Treatment of Hereditary Angioedema (HAE) Completed NCT00500656 Phase 3 Icatibant;Tranexamic Acid;Oral Placebo;S.C. Placebo
31 LEVP2005-1/Part B: A Double-blind, Placebo-Controlled, Clinical Study to Investigate the Efficacy and Safety of Purified C1 Esterase Inhibitor (Human) as Prophylactic Treatment to Prevent HAE Attacks Completed NCT01005888 Phase 3 Placebo (saline)
32 A Phase III Randomized, Double-blind, Placebo-controlled Study With an Open-label Extension Evaluating the Efficacy, Safety and Immunogenicity of Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks of Angioedema in Patients With HAE Completed NCT01188564 Phase 3 rhC1INH;Placebo (Saline)
33 A Phase III Randomized, Double-Blind,Placebo-Controlled, Multicenter Study of Icatibant for Subcutaneous Injection in Patients With Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00912093 Phase 3 Icatibant;Placebo
34 A Multicenter, Open-Label, Non-Randomized Study to Assess the Pharmacokinetics, Tolerability, and Safety of a Single Subcutaneous Administration of Icatibant in Children and Adolescents With Hereditary Angioedema Completed NCT01386658 Phase 3 icatibant
35 LEVP2005-1/Part A: A Double-blind, Placebo-Controlled, Clinical Study to Investigate the Efficacy and Safety of Purified C1 Esterase Inhibitor (Human) for the Treatment of HAE in Acute Attacks Completed NCT00289211 Phase 3 Placebo (saline)
36 Pharmacokinetics, Clinical Efficacy and Safety of C1 Inhibitor Concentrate (C1-Esteraseremmer-N) for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125151 Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
37 Pharmacokinetics, Clinical Efficacy and Safety of C1 Inhibitor Concentrate (C1-Esteraseremmer-N) for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125541 Phase 2, Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
38 An Open-label Study to Evaluate the Long-term Safety of Daily Oral BCX7353 in Subjects With Type I and II Hereditary Angioedema Recruiting NCT03472040 Phase 2, Phase 3 BCX7353
39 SPRING STUDY: An Open-Label, Multicenter, Phase 3 Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Lanadelumab for Prevention Against Acute Attacks of Hereditary Angioedema (HAE) in Pediatric Subjects 2 to <12 Years of Age Recruiting NCT04070326 Phase 3 Lanadelumab
40 A Phase 3, Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate the Efficacy and Safety of Two Dose Levels of BCX7353 as an Oral Treatment for the Prevention of Attacks in Subjects With Hereditary Angioedema Active, not recruiting NCT03485911 Phase 3 BCX7353 capsules;Placebo oral capsule
41 A Phase 3, Randomized, Double-blind, Placebo-controlled, Parallel-group Study to Evaluate the Efficacy and Safety of Two Dose Levels of BCX7353 as an Oral Treatment for the Prevention of Attacks in Subjects With Hereditary Angioedema Active, not recruiting NCT03873116 Phase 3 BCX7353 capsules;BCX7353 capsules;Placebo oral capsule
42 A Phase 3 Multi-center, Open-label Study to Evaluate the Efficacy and Safety of Lanadelumab (SHP643) in Japanese Subjects With Hereditary Angioedema Not yet recruiting NCT04180163 Phase 3 Lanadelumab
43 OPuS-4: An Open-label Study to Evaluate the Long-term Safety of Avoralstat in Subjects With Hereditary Angioedema Terminated NCT02670720 Phase 3 avoralstat
44 A 3-Part Study to Evaluate the Pharmacokinetics, Safety, and Efficacy of Subcutaneous Ecallantide in Prepubertal Paediatric Patients Experiencing Acute Attacks of Hereditary Angioedema (HAE) Withdrawn NCT01253382 Phase 2, Phase 3
45 A Multicenter, Open-Label Study to Assess the Tolerability and Safety of a Single, Subcutaneous Administration of Ecallantide in Children and Adolescents With Hereditary Angioedema Unknown status NCT01832896 Phase 2 Ecallantide subcutaneous dosing
46 An Open-label, Cross-over, Dose-ranging Study to Evaluate the Pharmacokinetics, Pharmacodynamics and Safety of the Subcutaneous Administration of a Human Plasma-derived C1-esterase Inhibitor in Subjects With Hereditary Angioedema Completed NCT01576523 Phase 1, Phase 2
47 Pharmacokinetics, Clinical Efficacy and Safety of C1 Inhibitor Concentrate (C1-Esteraseremmer-N) for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00119431 Phase 2 C1 inhibitor concentrate
48 An Open-label Exploratory Phase II Study of the Safety and Immunogenicity of Repeated "rhC1INH" Administration of 50 U/Kg in Patients With Hereditary C1 Inhibitor Deficiency ("HAE") Completed NCT00851409 Phase 2 Recombinant Human C1 Inhibitor
49 A Phase 2a Double-Blind Placebo-Controlled 2-Period Crossover Study to Evaluate the Safety and Efficacy of BCX4161 as a Prophylactic Treatment to Reduce the Frequency of Attacks in Subjects With Hereditary Angioedema Completed NCT01984788 Phase 2 BCX4161;Placebo
50 EDEMA2: An Open-Label Study to Assess the Efficacy and Tolerability of Repeated Doses of DX-88 (Recombinant Plasma Kallikrein Inhibitor) in Patients With Hereditary Angioedema Completed NCT01826916 Phase 2 DX-88 (ecallantide)

Search NIH Clinical Center for Hereditary Angioedema

Inferred drug relations via UMLS 71 / NDF-RT 50 :


C1 esterase inhibitor (human)

Cochrane evidence based reviews: angioedemas, hereditary

Genetic Tests for Hereditary Angioedema

Anatomical Context for Hereditary Angioedema

MalaCards organs/tissues related to Hereditary Angioedema:

40
Skin, Tongue, Eye, Heart, Endothelial, Testes, Liver

Publications for Hereditary Angioedema

Articles related to Hereditary Angioedema:

(show top 50) (show all 2220)
# Title Authors PMID Year
1
Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema. 54 61 6
1885769 1991
2
De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema. 61 6
23688413 2013
3
International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by C1 inhibitor deficiency. 61 6
22197274 2012
4
Gonadal mosaicism in hereditary angioedema. 61 6
16813612 2006
5
Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon. 61 6
2723063 1989
6
Restriction fragment length polymorphism of the C1 inhibitor gene in hereditary angioneurotic edema. 61 6
2890659 1987
7
Altered C1 inhibitor genes in type I hereditary angioedema. 61 6
3587308 1987
8
A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation. 6
20864152 2010
9
First case of homozygous C1 inhibitor deficiency. 6
17137866 2006
10
Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema. 6
8755917 1996
11
A single base deletion from the C1-inhibitor gene causes type I hereditary angio-oedema. 6
1339401 1992
12
An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema. 6
1684567 1991
13
Perioperative management of a patient with hereditary angioedema during off-pump coronary artery bypass graft surgery. 54 61
20522360 2010
14
[Emergency management of acute angioedema]. 54 61
20461661 2010
15
Successful treatment of hereditary angioedema with bradykinin B2-receptor antagonist icatibant. 54 61
19758369 2010
16
The bradykinin-forming cascade and its role in hereditary angioedema. 54 61
20377108 2010
17
Advances in basic and clinical immunology in 2009. 54 61
20226292 2010
18
Novel and recurrent mutations in the C1NH gene of Arab patients affected with hereditary angioedema. 54 61
19752569 2010
19
Peri-operative management of a patient with hereditary angioedema undergoing laparoscopic cholecystectomy. 54 61
19849675 2010
20
Clinical review of hereditary angioedema: diagnosis and management. 54 61
19940422 2009
21
Efficacy of human C1 esterase inhibitor concentrate compared with placebo in acute hereditary angioedema attacks. 54 61
19767078 2009
22
Kallikrein-kinin system and fibrinolysis in hereditary angioedema due to factor XII gene mutation Thr309Lys. 54 61
19474702 2009
23
Modern preoperative and intraoperative management of hereditary angioedema. 54 61
19368763 2009
24
When is prophylaxis for hereditary angioedema necessary? 54 61
19492656 2009
25
Advances in basic and clinical immunology in 2008. 54 61
19203657 2009
26
Hereditary angioedema: new hopes for an orphan disease. 54 61
19160940 2008
27
[67-year-old patient with speech disorder and dysphagia]. 54 61
19006046 2008
28
Studies of the mechanisms of bradykinin generation in hereditary angioedema plasma. 54 61
18814451 2008
29
Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates. 54 61
18586324 2008
30
Successful resolution of bowel obstruction in a patient with hereditary angioedema. 54 61
18467921 2008
31
The spectrum and treatment of angioedema. 54 61
18374684 2008
32
Biphenylsulfonyl-thiophene-carboxamidine inhibitors of the complement component C1s. 54 61
18242991 2008
33
Hereditary angioedema and pregnancy: a successful outcome using C1 esterase inhibitor concentrate. 54 61
18337530 2008
34
Metallopeptidase activities in hereditary angioedema: effect of androgen prophylaxis on plasma aminopeptidase P. 54 61
18158172 2008
35
Hereditary angioedema: a current state-of-the-art review, III: mechanisms of hereditary angioedema. 54 61
18220146 2008
36
Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema. 54 61
18758157 2008
37
New mutations in C1 esterase inhibitor (SERPING1) in a German family with hereditary angioedema. 54 61
20306692 2008
38
Possible disease-modifying factors: the mannan-binding lectin pathway and infections in hereditary angioedema of children and adults. 54 61
18250972 2008
39
Anti-cholesterol antibody levels in hereditary angioedema. 54 61
18205707 2007
40
Established and new treatments for hereditary angioedema: An update. 54 61
17768103 2007
41
Treatment of acute edema attacks in hereditary angioedema with a bradykinin receptor-2 antagonist (Icatibant). 54 61
17418383 2007
42
Hereditary angioedema: a Taiwanese family with a novel gene mutation. 54 61
18035804 2007
43
Relationship between copy number of genes (C4A, C4B) encoding the fourth component of complement and the clinical course of hereditary angioedema (HAE). 54 61
17229465 2007
44
Hereditary angioedema associated with heterozygous factor V Leiden mutation in a patient with Purpura fulminans. 54 61
17068406 2007
45
Laboratory testing for C1 inhibitor deficiency: a comparison of two approaches to C1 inhibitor function. 54 61
17270096 2007
46
Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. 54 61
17186468 2006
47
Novel pharmacotherapy of acute hereditary angioedema with bradykinin B2-receptor antagonist icatibant. 54 61
17073887 2006
48
Pregnancy and C1 esterase inhibitor deficiency: a successful outcome. 54 61
16783582 2006
49
Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. 54 61
16638441 2006
50
Angioedema from angiotensin-converting enzyme (ACE) inhibitor treated with complement 1 (C1) inhibitor concentrate. 54 61
16451161 2006

Variations for Hereditary Angioedema

ClinVar genetic disease variations for Hereditary Angioedema:

6 (show top 50) (show all 59) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 F12 NM_000505.3(F12):c.983C>A (p.Thr328Lys)SNV Pathogenic 1169 rs118204456 5:176831232-176831232 5:177404231-177404231
2 PLG NM_000301.3(PLG):c.988A>G (p.Lys330Glu)SNV Pathogenic 590291 rs889957249 6:161139762-161139762 6:160718730-160718730
3 SERPING1 NM_000062.2(SERPING1):c.465C>T (p.His155=)SNV Conflicting interpretations of pathogenicity 305023 rs201627388 11:57367765-57367765 11:57600292-57600292
4 SERPING1 NM_000062.2(SERPING1):c.5C>T (p.Ala2Val)SNV Conflicting interpretations of pathogenicity 305016 rs185342631 11:57365748-57365748 11:57598275-57598275
5 SERPING1 NM_000062.2(SERPING1):c.-99C>GSNV Uncertain significance 305011 rs866115469 11:57365119-57365119 11:57597646-57597646
6 SERPING1 NM_000062.2(SERPING1):c.-56T>GSNV Uncertain significance 305012 rs886048398 11:57365162-57365162 11:57597689-57597689
7 SERPING1 NM_000062.2(SERPING1):c.117C>G (p.Asp39Glu)SNV Uncertain significance 305018 rs11229062 11:57367417-57367417 11:57599944-57599944
8 SERPING1 NM_000062.2(SERPING1):c.-105C>ASNV Uncertain significance 305010 rs886048397 11:57365113-57365113 11:57597640-57597640
9 SERPING1 NM_000062.2(SERPING1):c.-36A>TSNV Uncertain significance 305013 rs761350979 11:57365182-57365182 11:57597709-57597709
10 SERPING1 NM_000062.2(SERPING1):c.285C>A (p.Thr95=)SNV Uncertain significance 305022 rs886048400 11:57367585-57367585 11:57600112-57600112
11 SERPING1 NM_000062.2(SERPING1):c.686-5C>GSNV Uncertain significance 305025 rs28362952 11:57373478-57373478 11:57606005-57606005
12 F12 NM_000505.3(F12):c.630C>T (p.Asp210=)SNV Uncertain significance 353000 rs886060471 5:176831815-176831815 5:177404814-177404814
13 F12 NM_000505.3(F12):c.-25G>ASNV Uncertain significance 353006 rs886060472 5:176836553-176836553 5:177409552-177409552
14 F12 NM_000505.3(F12):c.1251-12C>ASNV Uncertain significance 352990 rs747726864 5:176830630-176830630 5:177403629-177403629
15 F12 NM_000505.3(F12):c.1212C>G (p.Pro404=)SNV Uncertain significance 352991 rs756802257 5:176830898-176830898 5:177403897-177403897
16 F12 NM_000505.3(F12):c.928A>T (p.Arg310Trp)SNV Uncertain significance 352997 rs749549919 5:176831287-176831287 5:177404286-177404286
17 SERPING1 NM_000062.2(SERPING1):c.-24G>CSNV Uncertain significance 305014 rs112290300 11:57365194-57365194 11:57597721-57597721
18 SERPING1 NM_000062.2(SERPING1):c.135C>T (p.Val45=)SNV Uncertain significance 305019 rs886048399 11:57367435-57367435 11:57599962-57599962
19 SERPING1 NM_000062.2(SERPING1):c.51G>C (p.Gly17=)SNV Likely benign 305017 rs199473715 11:57365794-57365794 11:57598321-57598321
20 F12 NM_000505.3(F12):c.418C>G (p.Leu140Val)SNV Likely benign 353001 rs35515200 5:176832166-176832166 5:177405165-177405165
21 F12 NM_000505.3(F12):c.-8C>TSNV Likely benign 353005 rs369991760 5:176836536-176836536 5:177409535-177409535
22 SERPING1 NM_000062.2(SERPING1):c.-99dupduplication Likely benign 305009 rs28362939 11:57365111-57365112 11:57597638-57597639
23 F12 NM_000505.3(F12):c.930G>C (p.Arg310Ser)SNV Likely benign 352996 rs77098327 5:176831285-176831285 5:177404284-177404284
24 F12 NM_000505.3(F12):c.348C>A (p.Gly116=)SNV Likely benign 353003 rs140243617 5:176832373-176832373 5:177405372-177405372
25 F12 NM_000505.3(F12):c.-3G>ASNV Likely benign 353004 rs201346142 5:176836531-176836531 5:177409530-177409530
26 F12 , SLC34A1 NM_003052.5(SLC34A1):c.*361T>CSNV Likely benign 352983 rs539754545 5:176825648-176825648 5:177398647-177398647
27 F12 NM_000505.3(F12):c.398-12C>TSNV Likely benign 353002 rs56285942 5:176832198-176832198 5:177405197-177405197
28 F12 , SLC34A1 NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys)SNV Likely benign 352973 rs199565633 5:176824850-176824850 5:177397849-177397849
29 F12 , SLC34A1 NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=)SNV Likely benign 352976 rs148575220 5:176825086-176825086 5:177398085-177398085
30 F12 NM_000505.3(F12):c.1018+12G>CSNV Likely benign 352995 rs758462343 5:176831185-176831185 5:177404184-177404184
31 SERPING1 NM_000062.2(SERPING1):c.352A>G (p.Thr118Ala)SNV Likely benign 68250 rs200534715 11:57367652-57367652 11:57600179-57600179
32 F12 , SLC34A1 NM_000505.3(F12):c.1299C>T (p.Asn433=)SNV Likely benign 352987 rs17876033 5:176830570-176830570 5:177403569-177403569
33 F12 , SLC34A1 NM_000505.3(F12):c.1251-7C>TSNV Likely benign 352989 rs375340260 5:176830625-176830625 5:177403624-177403624
34 F12 NM_000505.3(F12):c.1025C>T (p.Pro342Leu)SNV Likely benign 352993 rs2230939 5:176831085-176831085 5:177404084-177404084
35 F12 NM_000505.3(F12):c.1018+13G>CSNV Likely benign 352994 rs552424629 5:176831184-176831184 5:177404183-177404183
36 F12 , SLC34A1 NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr)SNV Likely benign 352975 rs34225933 5:176825069-176825069 5:177398068-177398068
37 F12 , SLC34A1 NM_003052.5(SLC34A1):c.*179G>ASNV Likely benign 352979 rs141664220 5:176825466-176825466 5:177398465-177398465
38 F12 , SLC34A1 NM_003052.5(SLC34A1):c.*485G>ASNV Likely benign 352985 rs143160780 5:176825772-176825772 5:177398771-177398771
39 F12 , SLC34A1 NM_000505.3(F12):c.1342C>T (p.Arg448Cys)SNV Likely benign 352986 rs115119084 5:176830527-176830527 5:177403526-177403526
40 SERPING1 NM_000062.2(SERPING1):c.-21T>CSNV Likely benign 305015 rs28362944 11:57365723-57365723 11:57598250-57598250
41 SERPING1 NM_000062.2(SERPING1):c.227C>T (p.Thr76Ile)SNV Likely benign 305021 rs182779591 11:57367527-57367527 11:57600054-57600054
42 F12 NM_000505.3(F12):c.-57G>CSNV Likely benign 369462 rs41309132 5:176836585-176836585 5:177409584-177409584
43 F12 NM_000505.3(F12):c.-62C>TSNV Likely benign 369463 rs187018744 5:176836590-176836590 5:177409589-177409589
44 SERPING1 NM_000062.2(SERPING1):c.751C>T (p.Leu251=)SNV Benign/Likely benign 305026 rs35788383 11:57373548-57373548 11:57606075-57606075
45 SERPING1 NM_000062.2(SERPING1):c.1218C>T (p.Ser406=)SNV Benign/Likely benign 305028 rs11229070 11:57379378-57379378 11:57611905-57611905
46 SERPING1 NM_000062.2(SERPING1):c.468C>T (p.Ala156=)SNV Benign/Likely benign 305024 rs150601964 11:57367768-57367768 11:57600295-57600295
47 SERPING1 NM_000062.2(SERPING1):c.167T>C (p.Val56Ala)SNV Benign/Likely benign 305020 rs11546660 11:57367467-57367467 11:57599994-57599994
48 F12 , SLC34A1 NM_000505.3(F12):c.1272G>C (p.Thr424=)SNV Benign/Likely benign 352988 rs61737766 5:176830597-176830597 5:177403596-177403596
49 SERPING1 NM_000062.2(SERPING1):c.686-9T>CSNV Benign/Likely benign 92194 rs141593943 11:57373474-57373474 11:57606001-57606001
50 F12 NM_000505.3(F12):c.1107G>C (p.Ser369=)SNV Benign/Likely benign 352992 rs141473119 5:176831003-176831003 5:177404002-177404002

Expression for Hereditary Angioedema

Search GEO for disease gene expression data for Hereditary Angioedema.

Pathways for Hereditary Angioedema

Pathways related to Hereditary Angioedema according to KEGG:

36
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

Pathways related to Hereditary Angioedema according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.16 SERPING1 SELE PLG PLAUR KNG1 KLKB1
2
Show member pathways
12.66 XPNPEP2 KNG1 KLKB1 KLK1 F12
3
Show member pathways
12.05 SERPING1 PLG KNG1 KLKB1 KLK1 F12
4
Show member pathways
12.03 MBL2 MASP2 MASP1 CRP C4B C4A
5
Show member pathways
11.83 SERPING1 MBL2 MASP2 MASP1 C4B C4A
6 11.68 PLG MBL2 MASP2 MASP1 C4B C4A
7
Show member pathways
11.68 SERPING1 MBL2 MASP2 MASP1 CRP C4B
8
Show member pathways
11.66 KNG1 KLK1 BDKRB2 ACE
9 11.61 SERPING1 C4B C4A C1S
10 11.6 SERPING1 PLG PLAUR MBL2 MASP2 MASP1
11 11.49 PLG PLAUR KLK1
12 11.4 SERPING1 PLG KLKB1 F12
13 11.37 KLKB1 KLK1 F12
14 11.35 PLG PLAUR KNG1
15 10.66 PLG PLAUR

GO Terms for Hereditary Angioedema

Cellular components related to Hereditary Angioedema according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.18 XPNPEP2 SELE PLG PLAUR KNG1 KLKB1
2 extracellular exosome GO:0070062 10.03 XPNPEP2 SERPING1 PLG MASP2 KNG1 KLKB1
3 extracellular region GO:0005576 9.86 XPNPEP2 SERPING1 PLG PLAUR MBL2 MASP2
4 collagen-containing extracellular matrix GO:0062023 9.72 SERPING1 PLG MBL2 KNG1 F12
5 blood microparticle GO:0072562 9.63 SERPING1 PLG KNG1 C4B C4A C1S
6 platelet alpha granule lumen GO:0031093 9.58 SERPING1 PLG KNG1
7 extracellular space GO:0005615 9.5 SERPING1 SELE PLG MBL2 MASP2 MASP1

Biological processes related to Hereditary Angioedema according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 10.04 SERPING1 MBL2 MASP2 MASP1 C4B C4A
2 inflammatory response GO:0006954 10.02 SELE KNG1 KLKB1 CRP C4B C4A
3 proteolysis GO:0006508 9.97 XPNPEP2 PLG MASP2 MASP1 KLKB1 KLK1
4 blood coagulation GO:0007596 9.93 SERPING1 PLG PLAUR KNG1 KLKB1 F12
5 innate immune response GO:0045087 9.91 SERPING1 MBL2 MASP2 MASP1 F12 CRP
6 negative regulation of endopeptidase activity GO:0010951 9.86 SERPING1 KNG1 C4B C4A
7 regulation of complement activation GO:0030449 9.85 SERPING1 C4B C4A C1S
8 hemostasis GO:0007599 9.77 SERPING1 PLG KNG1 KLKB1 F12
9 blood coagulation, intrinsic pathway GO:0007597 9.71 SERPING1 KNG1 KLKB1 F12
10 zymogen activation GO:0031638 9.7 KLKB1 KLK1 F12
11 opsonization GO:0008228 9.69 MBL2 CRP C4B
12 complement activation, lectin pathway GO:0001867 9.67 MBL2 MASP2 MASP1
13 complement activation GO:0006956 9.63 MBL2 MASP2 MASP1 C4B C4A C1S
14 positive regulation of fibrinolysis GO:0051919 9.61 PLG KLKB1 F12
15 regulation of vascular permeability GO:0043114 9.58 CDH5 BDKRB2
16 positive regulation of apoptotic cell clearance GO:2000427 9.58 C4B C4A
17 Factor XII activation GO:0002542 9.54 KLKB1 F12
18 complement activation, classical pathway GO:0006958 9.5 SERPING1 MBL2 MASP2 CRP C4B C4A
19 fibrinolysis GO:0042730 9.02 SERPING1 PLG PLAUR KLKB1 F12

Molecular functions related to Hereditary Angioedema according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.97 XPNPEP2 PLG MASP2 MASP1 KLKB1 KLK1
2 calcium ion binding GO:0005509 9.85 MASP2 MASP1 F12 CRP CDH5 C1S
3 peptidase activity GO:0008233 9.81 XPNPEP2 PLG MASP2 MASP1 KLKB1 KLK1
4 signaling receptor binding GO:0005102 9.73 PLG PLAUR MBL2 KNG1 CDH5 ANGPT1
5 calcium-dependent protein binding GO:0048306 9.58 MBL2 MASP2 MASP1
6 serine-type endopeptidase activity GO:0004252 9.5 PLG MASP2 MASP1 KLKB1 KLK1 F12
7 complement component C1q binding GO:0001849 9.43 CRP C4A
8 serine-type peptidase activity GO:0008236 9.17 PLG MASP2 MASP1 KLKB1 KLK1 F12

Sources for Hereditary Angioedema

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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